ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.960T>G (p.Ala320=)

gnomAD frequency: 0.00014  dbSNP: rs139045247
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630984 SCV000751961 benign Fanconi anemia 2024-03-20 criteria provided, single submitter clinical testing

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